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Severe non-diabetic ketoacidosis due to starvation and Graves' disease. 由饥饿和格雷夫斯病引起的严重非糖尿病酮症酸中毒。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-266337
Koki Yamamoto, Yuki Honda, Kazuhito Saito
{"title":"Severe non-diabetic ketoacidosis due to starvation and Graves' disease.","authors":"Koki Yamamoto, Yuki Honda, Kazuhito Saito","doi":"10.1136/bcr-2025-266337","DOIUrl":"https://doi.org/10.1136/bcr-2025-266337","url":null,"abstract":"<p><p>Starvation-induced non-diabetic ketoacidosis (NDKA) is a typically mild condition. Here, we report life-threatening NDKA induced by a brief period of starvation in a patient with undiagnosed hyperthyroidism. A Japanese woman in her mid-30s, with intellectual disabilities and selective mutism, presented with a 3 day history of vomiting and anorexia. She developed severe high-anion-gap metabolic acidosis, marked by elevated serum ketone bodies and normal blood glucose levels. Furthermore, mild-to-moderate hyperthyroidism was detected, which was later diagnosed as Graves' disease. The patient required intensive care, including a single session of haemodialysis, intravenous glucose-containing fluids, antithyroid medication and continuous intravenous beta-blocker infusion. These interventions led to acidosis resolution and normalisation of thyroid function. This case highlights that coexisting hyperthyroidism, even if mild to moderate, could dramatically exacerbate starvation-induced NDKA. Clinicians should consider hyperthyroidism in patients presenting with severe ketoacidosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Melkersson-Rosenthal syndrome: recurrent facial swelling and food refusal. Melkersson-Rosenthal综合征：复发性面部肿胀和拒食。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-264924
Xanthea Dewez, Nitaa Eapen, Hafsah Brown, Jye Gard
{"title":"Melkersson-Rosenthal syndrome: recurrent facial swelling and food refusal.","authors":"Xanthea Dewez, Nitaa Eapen, Hafsah Brown, Jye Gard","doi":"10.1136/bcr-2025-264924","DOIUrl":"10.1136/bcr-2025-264924","url":null,"abstract":"<p><p>Patients with Melkersson-Rosenthal syndrome (MRS) experience prolonged periods of functional impairment due to partial or complete facial paralysis and orofacial oedema that interferes with their ability to eat, drink, taste, express emotions and speak. Younger children with MRS are at high risk of nasogastric feeding dependency and additional chronic feeding challenges due to the cumulative impacts of disease flares during the period when feeding skills and interest in foods are first developed. We present a case of a boy in early childhood who presented multiple times over a 4 month period with predominant symptoms of recurrent unilateral facial swelling and significantly reduced oral intake and who was eventually diagnosed with MRS.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polypharmacy-induced serotonin syndrome revealing underlying neurocognitive impairment and cervical myelopathy. 多药诱导血清素综合征揭示潜在的神经认知障碍和颈椎病。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-267753
Jainam Shah, Andrew Parsons, Sachin Pathuri, Joshua Lieberman, Candace Hatten-Powell
{"title":"Polypharmacy-induced serotonin syndrome revealing underlying neurocognitive impairment and cervical myelopathy.","authors":"Jainam Shah, Andrew Parsons, Sachin Pathuri, Joshua Lieberman, Candace Hatten-Powell","doi":"10.1136/bcr-2025-267753","DOIUrl":"https://doi.org/10.1136/bcr-2025-267753","url":null,"abstract":"<p><p>Serotonin syndrome is a life-threatening condition characterized by neuromuscular hyperactivity, autonomic dysregulation and altered mental status. Polypharmacy in older adults with multiple comorbidities is associated with increased risk of serotonin syndrome. We report a woman in her 50s with diabetes, hypertension and chronic kidney disease recently misdiagnosed with Parkinsonism. She presented with confusion, hyperreflexia, myoclonus and autonomic instability. Her medications included supratherapeutic paroxetine (40mg two times per day), aripiprazole and benztropine. Symptoms improved with cyproheptadine and cessation of serotonergic agents. However, persistent motor findings prompted further evaluation. Cervical spine MRI showed C4-C5 disc protrusion with ventral cord compression, while brain imaging revealed cerebral atrophy. Cautious administration of haloperidol did not worsen symptoms, suggesting drug-induced or structural Parkinsonism. This case highlights the risk of uncoordinated pharmacotherapy and premature diagnostic closure. The presentation of serotonin syndrome may obscure underlying neurologic pathology, making thorough medication review and multidisciplinary evaluation essential in complex geriatric presentations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Steroid-responsive encephalopathy associated with autoimmune thyroiditis. 与自身免疫性甲状腺炎相关的类固醇反应性脑病
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-268082
Mathew Wells, Jared Rife, Samantha Hopkins, Elizabeth Nafziger
{"title":"Steroid-responsive encephalopathy associated with autoimmune thyroiditis.","authors":"Mathew Wells, Jared Rife, Samantha Hopkins, Elizabeth Nafziger","doi":"10.1136/bcr-2025-268082","DOIUrl":"https://doi.org/10.1136/bcr-2025-268082","url":null,"abstract":"<p><p>Hashimoto encephalopathy or steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare condition associated with rapidly progressive dementia, stroke-like symptoms, psychosis and positive antithyroid antibodies. In this case report, a woman in her 80s with hypothyroidism and no other medically relevant history presented with a 2-week complaint of progressive hallucinations, short-term memory loss and paranoia. Eventually hospitalised, her hospital course was complicated by severe hospital-acquired delirium, which clouded the clinical picture; however, initial workup revealed an elevated thyroglobulin antibody and thyroid peroxidase, both highly specific for SREAT. A 3-day course of high-dose methylprednisolone (1 g/day) was administered, which revealed marked improvement in patient symptoms. Definitive treatment included a 13-week oral prednisone taper and outpatient follow-up with neurology and primary care. In cases of new onset neuropsychiatric symptoms in geriatric populations, SREAT is a reversible, must-not-miss diagnosis, when treated with systemic steroids.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Chronic arsenic exposure: implications for liver and kidney disease. 慢性砷暴露：对肝脏和肾脏疾病的影响。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2024-264320
Shrreya Agarwal, Jhasaketan Meher, Vinay Pandit, Joydeep Samanta
{"title":"Chronic arsenic exposure: implications for liver and kidney disease.","authors":"Shrreya Agarwal, Jhasaketan Meher, Vinay Pandit, Joydeep Samanta","doi":"10.1136/bcr-2024-264320","DOIUrl":"https://doi.org/10.1136/bcr-2024-264320","url":null,"abstract":"<p><p>Chronic liver disease (CLD) is prevalent worldwide, but clinicians often struggle to identify the precise aetiology. Renal involvement in CLD is also puzzling, with varied pathologies and risk factors. Glomerular involvement in the form of IgA nephropathy is one of the many pathologies that could result in renal dysfunction. The co-occurrence of hepatic and renal dysfunction without discernible sequence presents a diagnostic challenge for physicians in elucidating the underlying pathology and causative factors.A man in his 20s presented to us with a complicated urinary tract infection. His background illnesses included a CLD with portal hypertension for 4 years, along with a simultaneously diagnosed IgA nephropathy, for which he was receiving low-dose steroids. We noticed a characteristic raindrop pigmentation of his skin, primarily on the trunk. On investigation, a persistently elevated level of arsenic in urine was detected, which was attributed to the water source. Chronic arsenic exposure as the aetiology behind CLD and IgA nephropathy was considered, after excluding other potential causes. The patient responded well to dimercaprol. It is imperative to thoroughly investigate for potential underlying causes before labelling any CLD or chronic kidney disease as cryptogenic or idiopathic.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A histopathological hybrid cyst with overlapping features of steatocystoma multiplex and eruptive vellus hair cyst. 一种组织病理学混合型囊肿，具有多发脂肪囊瘤和突发性毳毛囊肿的重叠特征。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-267516
Keerthana Rachamadugu, Manasi Mukund Joshi, Bhushan Madke, Naga Nitya
{"title":"A histopathological hybrid cyst with overlapping features of steatocystoma multiplex and eruptive vellus hair cyst.","authors":"Keerthana Rachamadugu, Manasi Mukund Joshi, Bhushan Madke, Naga Nitya","doi":"10.1136/bcr-2025-267516","DOIUrl":"https://doi.org/10.1136/bcr-2025-267516","url":null,"abstract":"<p><p>Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are relatively rare, benign tumours of the pilosebaceous unit. SM and EVHC are distinct entities with comparable clinical characteristics but significant histological distinctions. We report a case of a young male patient in his 20s who presented with multiple, asymptomatic raised skin lesions over the front and back of the trunk. A provisional diagnosis of SM was made clinically, but histopathology revealed features of both SM and EVHC, confirming the dual nature of the lesions.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Confirmation bias in medical referrals: an unusual presentation of pain at the base of the skull. 医学转诊中的确认偏误：一种不寻常的颅底疼痛表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-267111
Katie Prior, Ying Kristen Lau, Miriam Harris, Mostafa Ellatif
{"title":"Confirmation bias in medical referrals: an unusual presentation of pain at the base of the skull.","authors":"Katie Prior, Ying Kristen Lau, Miriam Harris, Mostafa Ellatif","doi":"10.1136/bcr-2025-267111","DOIUrl":"https://doi.org/10.1136/bcr-2025-267111","url":null,"abstract":"<p><p>A middle-aged woman was referred to the admitting medical team with sudden onset pain at the base of the skull. Initial differentials included subarachnoid haemorrhage and meningitis. Due to the referral of a patient presenting with occipital headache, there was a confirmation bias by the medical team in the initial assessment of this patient, and alternative diagnoses were not considered in the first instance. On review by a medical consultant, pathology in the upper neck was proposed as a cause for the pain. Dedicated CT imaging of the neck revealed acute calcification of the longus colli muscle. This is a usually benign self-limiting condition which is managed in the first instance with non-steroidal anti-inflammatory drugs. Acute calcification of the longus colli is a rare and poorly recognised condition. It should be considered as a potential differential for patients presenting with neck pain, particularly in the presence of odynophagia and mildly elevated inflammatory markers. Cognitive bias should be considered during initial assessment of patients to help reduce premature closure when forming differential diagnoses.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optineurin mutation-associated language variant frontotemporal dementia. optinineurin突变相关的语言变异额颞叶痴呆。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-266544
Ashley Park, Kirsty West, David Darby, Amy Brodtmann
{"title":"Optineurin mutation-associated language variant frontotemporal dementia.","authors":"Ashley Park, Kirsty West, David Darby, Amy Brodtmann","doi":"10.1136/bcr-2025-266544","DOIUrl":"https://doi.org/10.1136/bcr-2025-266544","url":null,"abstract":"<p><p>A right-handed woman in her early 50s presented with progressive language difficulties with visual and auditory hallucinations. Upper motor neuron signs were present without lower motor neuron signs, insufficient to make a diagnosis of amyotrophic lateral sclerosis (ALS). MRI showed bilateral superior temporal atrophy (right>left) and F-18 fluorodeoxyglucose-positron emmission tomography (FDG-PET) scan showed right temporal hypometabolism. Her clinical diagnosis was atypical or mixed language variant frontotemporal dementia (FTD) given the presence of agrammatism and phonemic intrusions. There was a family history of FTD and ALS. Genetic testing revealed a homozygous optineurin (<i>OPTN</i>) mutation. She experienced progressive auditory agnosias including musical agnosia and eventual mutism. A review of the literature reveals wide phenotypic variability of people with <i>OPTN</i> variants, emphasising the importance of genetic testing beyond that predicted by classical phenotypes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Heartbeat of hope: newborn's journey with a pacemaker. 希望的心跳：新生儿与起搏器的旅程。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-266133
R K Shwetabh, Sushil Kumar K, Kirti M Naranje, Anita Singh, Abhishek Paul, Akanksha Verma, Muzil Munshi, Areeb Ahmad Khan
{"title":"Heartbeat of hope: newborn's journey with a pacemaker.","authors":"R K Shwetabh, Sushil Kumar K, Kirti M Naranje, Anita Singh, Abhishek Paul, Akanksha Verma, Muzil Munshi, Areeb Ahmad Khan","doi":"10.1136/bcr-2025-266133","DOIUrl":"https://doi.org/10.1136/bcr-2025-266133","url":null,"abstract":"<p><p>Congenital heart block is a rare disorder of neonates. It is generally diagnosed in the antenatal period or at birth and is commonly associated with transplacental passage of anti-Ro and/or anti-La antibodies to the fetus. It has a high mortality rate if left untreated. A pacemaker is considered as the treatment of choice, but the expertise for pacemaker implantation is available at only a few centres in India. We present a case of a late preterm neonate with antenatally diagnosed heart block due to anti-Ro antibody in the mother. The baby required delivery room resuscitation and mechanical ventilation. Postnatal ECG was also suggestive of third degree heart block and the baby landed into shock soon after birth. The baby was managed initially with ionotropic agents and an epicardial pacemaker was implanted within 6 hours of life. The baby was discharged successfully with stable vitals.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Limb salvage in polytrauma-pushing the boundaries. 多伤肢体抢救——突破界限。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-267339
Gabriel Nierenberg, Alexander Lerner, Alexander Chelnokov, Eran Keltz
{"title":"Limb salvage in polytrauma-pushing the boundaries.","authors":"Gabriel Nierenberg, Alexander Lerner, Alexander Chelnokov, Eran Keltz","doi":"10.1136/bcr-2025-267339","DOIUrl":"https://doi.org/10.1136/bcr-2025-267339","url":null,"abstract":"<p><p>This report presents a polytrauma patient with a pelvic ring injury, multiple lower extremity fractures and a mangled left lower leg. After initial vascular repair and a temporising external fixation, the patient's injuries were sequentially addressed. The left tibia was stabilised with an Ilizarov apparatus. Extensive bone and soft tissue damage necessitated the excision of a non-viable tibial shaft segment, enabling the creation of an artificial deformity for extensive temporary soft tissue coverage. Nursing and soft tissue management involved negative pressure wound therapy, copper-ion dressings, quilting metal sutures and wide skin grafts to build a soft tissue infrastructure to return to normal lower-leg length and alignment. The critical bone loss was managed by 'tibialising' the fractured fibula, conversion of the Ilizarov apparatus to an antibiotic-impregnated intramedullary nail and a custom-made brace. Rehabilitation resulted in an infection-free and pain-free limb with a near-normal gait.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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